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C15orf48 (chromosome 15 open reading frame 48)

Identity

Alias_symbol (synonym)NMES1
Other aliasFOAP-11
MIR147BHG
HGNC (Hugo) C15orf48
LocusID (NCBI) 84419
Atlas_Id 41548
Location 15q21.1  [Link to chromosome band 15q21]
Location_base_pair Starts at 45430529 and ends at 45433449 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)C15orf48   29898
Cards
Entrez_Gene (NCBI)C15orf48  84419  chromosome 15 open reading frame 48
AliasesFOAP-11; MIR147BHG; NMES1
GeneCards (Weizmann)C15orf48
Ensembl hg19 (Hinxton)ENSG00000166920 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166920 [Gene_View]  ENSG00000166920 [Sequence]  chr15:45430529-45433449 [Contig_View]  C15orf48 [Vega]
ICGC DataPortalENSG00000166920
TCGA cBioPortalC15orf48
AceView (NCBI)C15orf48
Genatlas (Paris)C15orf48
WikiGenes84419
SOURCE (Princeton)C15orf48
Genetics Home Reference (NIH)C15orf48
Genomic and cartography
GoldenPath hg38 (UCSC)C15orf48  -     chr15:45430529-45433449 +  15q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C15orf48  -     15q21.1   [Description]    (hg19-Feb_2009)
EnsemblC15orf48 - 15q21.1 [CytoView hg19]  C15orf48 - 15q21.1 [CytoView hg38]
Mapping of homologs : NCBIC15orf48 [Mapview hg19]  C15orf48 [Mapview hg38]
OMIM608409   
Gene and transcription
Genbank (Entrez)AA493534 AB026707 AF228422 AK026298 BC021173
RefSeq transcript (Entrez)NM_032413 NM_197955
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C15orf48
Cluster EST : UnigeneHs.112242 [ NCBI ]
CGAP (NCI)Hs.112242
Alternative Splicing GalleryENSG00000166920
Gene ExpressionC15orf48 [ NCBI-GEO ]   C15orf48 [ EBI - ARRAY_EXPRESS ]   C15orf48 [ SEEK ]   C15orf48 [ MEM ]
Gene Expression Viewer (FireBrowse)C15orf48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84419
GTEX Portal (Tissue expression)C15orf48
Human Protein AtlasENSG00000166920-C15orf48 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C002   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C002  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C002
Splice isoforms : SwissVarQ9C002
PhosPhoSitePlusQ9C002
Domains : Interpro (EBI)B12D   
Domain families : Pfam (Sanger)B12D (PF06522)   
Domain families : Pfam (NCBI)pfam06522   
Conserved Domain (NCBI)C15orf48
DMDM Disease mutations84419
Blocks (Seattle)C15orf48
SuperfamilyQ9C002
Human Protein Atlas [tissue]ENSG00000166920-C15orf48 [tissue]
Peptide AtlasQ9C002
HPRD16332
IPIIPI00031772   
Protein Interaction databases
DIP (DOE-UCLA)Q9C002
IntAct (EBI)Q9C002
FunCoupENSG00000166920
BioGRIDC15orf48
STRING (EMBL)C15orf48
ZODIACC15orf48
Ontologies - Pathways
QuickGOQ9C002
Ontology : AmiGOcytochrome-c oxidase activity  nucleus  mitochondrial respiratory chain complex IV  electron transport chain  proton transmembrane transport  
Ontology : EGO-EBIcytochrome-c oxidase activity  nucleus  mitochondrial respiratory chain complex IV  electron transport chain  proton transmembrane transport  
NDEx NetworkC15orf48
Atlas of Cancer Signalling NetworkC15orf48
Wikipedia pathwaysC15orf48
Orthology - Evolution
OrthoDB84419
GeneTree (enSembl)ENSG00000166920
Phylogenetic Trees/Animal Genes : TreeFamC15orf48
HOVERGENQ9C002
HOGENOMQ9C002
Homologs : HomoloGeneC15orf48
Homology/Alignments : Family Browser (UCSC)C15orf48
Gene fusions - Rearrangements
Fusion : QuiverC15orf48
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC15orf48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C15orf48
dbVarC15orf48
ClinVarC15orf48
1000_GenomesC15orf48 
Exome Variant ServerC15orf48
ExAC (Exome Aggregation Consortium)ENSG00000166920
GNOMAD BrowserENSG00000166920
Varsome BrowserC15orf48
Genetic variants : HAPMAP84419
Genomic Variants (DGV)C15orf48 [DGVbeta]
DECIPHERC15orf48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC15orf48 
Mutations
ICGC Data PortalC15orf48 
TCGA Data PortalC15orf48 
Broad Tumor PortalC15orf48
OASIS PortalC15orf48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC15orf48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC15orf48
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch C15orf48
DgiDB (Drug Gene Interaction Database)C15orf48
DoCM (Curated mutations)C15orf48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C15orf48 (select a term)
intoGenC15orf48
Cancer3DC15orf48(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608409   
Orphanet
DisGeNETC15orf48
MedgenC15orf48
Genetic Testing Registry C15orf48
NextProtQ9C002 [Medical]
TSGene84419
GENETestsC15orf48
Target ValidationC15orf48
Huge Navigator C15orf48 [HugePedia]
snp3D : Map Gene to Disease84419
BioCentury BCIQC15orf48
ClinGenC15orf48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84419
Chemical/Pharm GKB GenePA142672265
Clinical trialC15orf48
Miscellaneous
canSAR (ICR)C15orf48 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC15orf48
EVEXC15orf48
GoPubMedC15orf48
iHOPC15orf48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:12:10 CEST 2018

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